We are the combination of four hospitals: the General Hospital, the Children’s Hospital, the Women’s Hospital and the Traumatology, Rehabilitation and Burns Hospital. We are part of the Vall d’Hebron Barcelona Hospital Campus: a world-leading health park where healthcare plays a crucial role.
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Scleroderma is an autoimmune disorder characterised by increased collagen in various body tissues, structural alteration of microcirculation and certain immune abnormalities. The term scleroderma comes from the Greek “skleros”, which means hard, and “derma”, which means skin. This indicates that skin hardening is the most characteristic feature of the condition. As well as the skin, it can also affect the digestive tract, lungs, kidneys and heart. The prognosis varies. There is currently no cure, but the condition can be treated with general measures and treatment of symptoms, depending on the organs affected.
Raynaud syndrome: one of the most characteristic manifestations of the condition (97% of cases), it is the first clinical expression in most patients. It is caused by vasoconstriction of the capillaries. Patients report that with the cold their fingers change colour and turn pale (like wax) first, then turn blue after a while and finally turn reddish. The presence of Raynaud syndrome is not always an indication of scleroderma. In reality, only 5% of people with Raynaud syndrome later develop the condition. Almost half of sufferers may have digital ulcers, as an expression of a severe microcirculatory injury.
The most peculiar manifestation of the disease is the way it affects the skin. It is hard, tight and wrinkle-free (hard to pinch). The extent of the skin condition varies and is related to the prognosis. Two clinical forms are distinguished: limited (distal skin condition to elbows and knees) and diffuse (distal and proximal skin condition to elbows and knees, and torso). The face can be affected equally in both clinical forms. The limited subtype has a better prognosis than the diffuse one. Reduced aperture of the mouth (microstomy) may also be seen. In the skin there are hyperpigmented and coloured areas, telangiectasia (accumulation of small blood vessels) and sometimes subcutaneous calcium deposits can be felt (calcinosis).
Most patients experience joint and muscle pain, and in extreme cases contraction and retraction of the fingers are observed. When the digestive tract is affected, which often happens, the patient complains of a burning sensation and difficulty swallowing, as the oesophagus has lost its ability to move food towards the stomach. Pulmonary disease is the leading cause of death and may occur in the form of fibrosis or pulmonary hypertension; coughing, choking and heart failure are the main manifestations of lung involvement. When the heart is affected, heart rhythm disturbances and in some cases symptoms of angina pectoris are detected, due to the involvement of the small coronary vessels. In a small percentage (about 5%) scleroderma alters the kidney (scleroderma renal crisis) and manifests itself as malignant arterial hypertension and kidney failure.
It should be noted that not all patients with scleroderma present all the manifestations described above. It can also be concluded that there is great, almost individual, variability in the clinical expression of the disease.
Scleroderma is a rare disease with an incidence of 4-18.7/million/year and a prevalence of 31-286/million. It is more common in females, with a variable ratio, depending on the series, ranging from 3:1 to 14:1 (female/male). The age at which it presents is around 30-40 years.
When the above symptomatology is clear, the diagnosis does not offer too much room for doubt. Various complementary tests are helpful in confirming diagnosis and in assessing the degree of involvement of the various organs that may be affected.
“An incurable, but not untreatable condition”. There is currently no treatment for scleroderma that has satisfactory results, but this does not mean that it cannot be treated. Treatment is symptomatic, depending on the organ affected. For Raynaud syndrome: vasodilators, antiplatelets; gastro-oesophageal reflux: proton pump inhibitors; renal crisis: angiotensin converting enzyme inhibitors/dialysis; pulmonary fibrosis: immunosuppressants/lung transplant; pulmonary hypertension: vasodilators/lung transplant. In patients with the diffuse form and less than three years of evolution, immune modulators such as mycophenolate sodium (or mycophenolate mofetil) or methotrexate may be indicated as a basic treatment.
The most common tests to confirm and/or assess the degree of involvement of the various organs are: general analyses and immunological data (specific antinuclear antibodies); capillaroscopy, high-resolution computerised axial tomography scan of the chest, respiratory functional tests, oesophageal manometry and echocardiogram. In the follow-up for these patients, respiratory functional tests and an echocardiogram should be performed annually.
In addition to providing multidisciplinary care for patients of all ages who suffer this condition, the objectives of Vall d’Hebron Hospital’s Hereditary Angioedema Unit include teaching and research in this field.
The Hereditary Angioedema Unit (UAEH) of Vall d’Hebron University Hospital’s Allergology Department has been treating patients with this disorder for more than 25 years.
UAEH outpatients are treated by allergology specialists in a multidisciplinary manner in the Outpatient Clinic in the Old Nursing School and in the Children’s and Women’s Hospital, ensuring transference and continuity of care from childhood through to adulthood for this genetic, lifelong condition.
The Immunology Department performs routine and complex immune system diagnostic tests, assessing and interpreting them in a clinical context. For complex testing, we act as a reference laboratory for other Catalan Health Institute centres when these centres request our help.
Most healthcare activities consist of diagnostic testing, and assessment and opinion, where applicable. Within this practice, we provide direct and continuous advice to clinical practitioners, by email, telephone as well as in person. We also design and improve diagnostic tests and protocols that allow diagnostic methods to be continually updated and bring clinical services into line with clinical requirements. Teaching and research are both crucial for the work that we are doing.
The Immunology Department is responsible for diagnosis, teaching and research in Immunology at Vall d'Hebron University Hospital (HUVH) and its catchment area. The key processes it performs are: Immunology diagnostic tests and in the design of diagnostic protocols, clinical immunology outpatient clinic, specialised teaching of immunology, pre- and postgraduate, and research, development and innovation through their own projects in the fields of primary immunodeficiencies, autoimmunity and consulting in the design and execution of the research projects of other groups in the Hospital.
Immunology training itinerary
The Immunology Department is part of VH Clinical Laboratories, some of the largest in Europe with more than 16,000,000 determinations / year. It is located in new premises (2014) on the ground floor of the VH Clinical Laboratories building (approximately 400 m2). It is organised by processes under the framework of the ISO 9001 quality management system: Autoimmunity, Hypersensitivity, Cellular Immunology, Immunogenetics (HLA and disease), Immunogenetics (Study of primary immunodeficiencies), Immunoproteins, Monitoring of immunotherapy and Clinical Immunology Clinic. It actively participates in the clinical processes of the Hospital on multidisciplinary case management committees for amyloidosis, multiple myeloma, primary immunodeficiencies and complex glomerulopathies.
It also works bilaterally with other departments in the clinical processes relating to autoimmunity, allergies, reproductive immunology and cancer. The department is part of the Transversal Immunology Programme on the Vall d'Hebron Campus, which facilitates collaboration with other professionals working on immunology issues in other research groups. This enables the department to have 3 different programmes of sessions covering:
The department comprises 7 immunology specialists, 2 with a more clinical profile and 5 with a laboratory profile, as well as a molecular immunology expert. There is also one supervisor and 12 technicians.1 administrator. 1 resident per year (currently 3) and an immunology pre-doc.
There are professionals linked to the immunology department who are involved in different processes:
The Cerebrospinal Fluid Laboratory is the result of a collaboration agreement with VHIR-CEMCAT (Multiple Sclerosis Centre of Catalonia), to carry out complex care tests and implement new biomarkers in multiple sclerosis in healthcare practice (translational research). This process involves a principal researcher from the Clinical Neuroimmunology research group and a technician.
The allergy unit, in conjunction with the immunology department, is actively involved in drawing up reports interpreting the results of molecular allergy testing of patients from other centres. This added value means the department is even more useful for customers.
To improve the coordination of the paediatric primary immunodeficiency process. The Immunology Department shares a biologist with the Paediatric Infectious Pathology and Immunodeficiency Unit. This biologist takes on tasks shared between the clinic and the lab.
There is collaboration with the Translational Bioinformatics Research Group to determine the pathogenicity of gene mutations in patients with primary immunodeficiency. The complementary nature of immunological, genetic, bioinformatic and functional studies of proteins allows a personalised diagnosis of patients with primary immunodeficiency, which in turn helps find treatments that are more appropriate to the molecular pathology in question.
The Immunological Regulation and Immunotherapy Research Group provides methodological and technical support to the Department of Immunology in applied research subjects. The group leader is currently co-IP on a research project (on Family Haemophagocytic Syndrome) and this collaboration will be included as part of a resident’s thesis.
Immunology, Cross-departmental services
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